Basic and clinical immunology articles published in the Journal in 2012 were mostly related to the expanding area of primary immunodeficiencies (PIDs). Novel forms of PID were identified by using whole-exome sequencing or after careful examination of flow cytometric data, as in the reports of lymphocyte-specific
protein tyrosine kinase, CD27, and CD21 deficiencies. Absent
IgG and
IgA memory B cells were described in patients with
hyper-IgE syndrome, which is consistent with defective antibody response and suggests a potential benefit of
immunoglobulin replacement. Impaired production of
antibodies to
polysaccharide antigens by the human B-cell subset analog to murine B-1 cells was reported in a child with selective
polysaccharide antibody deficiency. Increased production of inflammatory
cytokines by monocyte-derived cells on
Toll-like receptor activation was reported in patients with
X-linked agammaglobulinemia, underscoring the important role of
Bruton tyrosine kinase in modulation of
inflammation. The mechanisms explaining susceptibility to yeast
infections and development of
chronic mucocutaneous candidiasis were extensively studied. Universal newborn screening for T-cell deficiencies is being implemented in several states, resulting in the diagnosis of a higher number of immunodeficient newborns than previously estimated. The use of laboratory testing to distinguish PIDs from
HIV infection was clarified. In the management of PIDs, refinement of indication and strategies to
hematopoietic stem cell transplantation resulted in improved outcomes. The use of anti-IL-6 mAbs showed promise as an alternative treatment in patients with
Schnitzler syndrome.